Gene Symbol:
MAP3K7
HGNC:6859
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q15
Filters:

Strong classifications

cardiospondylocarpofacial syndrome
Submitted as: OMIM:157800
AD
11/08/2016
Evaluated
11/25/2020
Submitted
frontometaphyseal dysplasia 1
Submitted as: OMIM:305620
AD
11/08/2016
Evaluated
11/25/2020
Submitted

Moderate classifications

cardiospondylocarpofacial syndrome
Submitted as: OMIM:157800
AD
04/17/2018
Evaluated
03/02/2021
Submitted
frontometaphyseal dysplasia 2
Submitted as: OMIM:617137
AD
06/16/2017
Evaluated
03/02/2021
Submitted

Supportive classifications

frontometaphyseal dysplasia
Submitted as: Orphanet:1826
AD
09/14/2021
Evaluated
09/14/2021
Submitted
cardiospondylocarpofacial syndrome
Submitted as: Orphanet:3238
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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